NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=) AND Mucolipidosis type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 29, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001832072.1
Allele description [Variation Report for NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=)]
NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=)
Condition(s)
- Name:
- Mucolipidosis type II
- Synonyms:
- ML II ALPHA/BETA; I cell disease; Mucolipidosis 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009650; MedGen: C2673377; Orphanet: 576; OMIM: 252500
-
Mus musculus reticulon 4 (Rtn4), transcript variant 4, mRNA
Mus musculus reticulon 4 (Rtn4), transcript variant 4, mRNAgi|34610205|ref|NM_024226.2|Nucleotide
-
Mus musculus reticulon 4 (Rtn4), transcript variant 2, mRNA
Mus musculus reticulon 4 (Rtn4), transcript variant 2, mRNAgi|34610232|ref|NM_194052.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024